| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003132, LOC130003133 +1210 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002822, LOC130002823 +160 more | Copy number loss | See cases | |
| | LOC130003057, LOC130003058 +656 more | Copy number gain | See cases | |
| | RAPGEF1, SNORD62A +57 more | Copy number gain | See cases | |
| | | Single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2K | |
| | | Single nucleotide variant | Autosomal recessive limb-girdle muscular dystrophy type 2K | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Duplication (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | POMT1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Limb-girdle muscular dystrophy, recessive | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (nonsense +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | POMT1-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +3 more | |
| | | Duplication (frameshift variant +3 more) | Walker-Warburg congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Deletion (frameshift variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more | |
| | | Deletion (frameshift variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more | |
| | | Deletion (frameshift variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (nonsense +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Insertion (frameshift variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Duplication (frameshift variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Microsatellite (frameshift variant +3 more) | Dysgenesis of the cerebellar vermis | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Walker-Warburg congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Walker-Warburg congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | POMT1-related disorder | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (intron variant) | Walker-Warburg congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (intron variant) | Limb-girdle muscular dystrophy, recessive +4 more | |
| | | Duplication (intron variant) | not specified +6 more | |
| | | Deletion (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more | |
| | | Single nucleotide variant (nonsense +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more | GConflicting classifications of pathogenicity |